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Showing results 4 to 7 of 7
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Issue Date
Title
Author(s)
2018-02-22
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Gennarino, VA
;
Palmer, EE
;
McDonell, LM
;
Wang, L
;
Adamski, CJ
;
Koire, A
;
See, L
;
Chen, CA
;
Schaaf, CP
;
Rosenfeld, JA
;
Panzer, JA
;
Moog, U
;
Hao, S
;
Bye, A
;
Kirk, EP
;
Stankiewicz, P
;
Breman, AM
;
McBride, A
;
Kandula, T
;
Dubbs, HA
;
Macintosh, R
;
Cardamone, M
;
Zhu, Y
;
Ying, K
;
Dias, KR
;
Cho, MT
;
Henderson, LB
;
Baskin, B
;
Morris, P
;
Tao, J
;
Cowley, MJ
;
Dinger, ME
;
Roscioli, T
;
Caluseriu, O
;
Suchowersky, O
;
Sachdev, RK
;
Lichtarge, O
;
Tang, J
;
Boycott, KM
;
Holder, JL
;
Zoghbi, HY
2019-09-01
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
Ewans, LJ
;
Colley, A
;
Gaston-Massuet, C
;
Gualtieri, A
;
Cowley, MJ
;
McCabe, MJ
;
Anand, D
;
Lachke, SA
;
Scietti, L
;
Forneris, F
;
Zhu, Y
;
Ying, K
;
Walsh, C
;
Kirk, EP
;
Miller, D
;
Giunta, C
;
Sillence, D
;
DInger, M
;
Buckley, M
;
Roscioli, T
2008-01
Visualising the locative experience
Bowman, CP
;
Leung, TM
;
Hoofd, I
;
Tan, M
;
Ying, K
2018-12-01
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Ewans, LJ
;
Schofield, D
;
Shrestha, R
;
Zhu, Y
;
Gayevskiy, V
;
Ying, K
;
Walsh, C
;
Lee, E
;
Kirk, EP
;
Colley, A
;
Ellaway, C
;
Turner, A
;
Mowat, D
;
Worgan, L
;
Freckmann, ML
;
Lipke, M
;
Sachdev, R
;
Miller, D
;
Field, M
;
Dinger, ME
;
Buckley, MF
;
Cowley, MJ
;
Roscioli, T